E24K (p.Glu24Lys) variant of ETV1 (ETS translocation variant 1)
E24K (p.Glu24Lys) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- ESP rs367998229
- TOPMed rs367998229
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.22
- CADD 22.50
- PolyPhen-2 0.23
- SIFT 0.73
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available